{"id":106340,"date":"2018-03-11T10:30:14","date_gmt":"2018-03-11T10:30:14","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/busqueda-de-nuevos-genes-implicados-en-la-diabetes-monogenica\/"},"modified":"2018-03-11T10:30:14","modified_gmt":"2018-03-11T10:30:14","slug":"busqueda-de-nuevos-genes-implicados-en-la-diabetes-monogenica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/bioquimica-molecular\/busqueda-de-nuevos-genes-implicados-en-la-diabetes-monogenica\/","title":{"rendered":"B\u00fasqueda de nuevos genes implicados en la diabetes monog\u00e9nica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Intza Garin Elcoro <\/strong><\/h2>\n<p>Entre el 25-45% de las familias o pacientes con diabetes monog\u00e9nica no presentan alteraci\u00f3n en ninguno de los genes postulados hasta el momento como causantes de esta enfermedad. El objetivo general de esta tesis fue identificar nuevos genes responsables de la etiopatogenia de la diabetes monog\u00e9nica, mediante el estudio de familias o pacientes no portadores de alteraci\u00f3n gen\u00e9tica (17 familias\/pacientes diagnosticados de diabetes neonatal y 16 diagnosticadas de diabetes familiar aislada de herencia autos\u00f3mica dominante).   en la presente memoria se recogen las variantes detectadas en nuestra serie de pacientes en nuevos genes descritos recientemente (abcc8 e ins) y los estudios funcionales para determinar la patogenicidad de las mismas. Adicionalmente, se presentan los resultados obtenidos de la b\u00fasqueda de nuevos genes por dos estrategias diferentes: genes candidato y an\u00e1lisis de genoma completo. Mediante esta segunda estrategia se pudo detectar una regi\u00f3n candidata en el cromosoma 8 como posible responsable de la diabetes familiar aislada de herencia autos\u00f3mica dominante. Dicha regi\u00f3n fue confirmada mediante el estudio de marcadores str o microsat\u00e9lites. Realizamos una b\u00fasqueda de mutaciones en genes candidatos en dicho cromosoma y, aunque no encontramos ninguna variante gen\u00e9tica causal, los datos obtenidos confirman la regi\u00f3n 8p12-p11 como candidata a contener un gen responsable de la diabetes monog\u00e9nica.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>B\u00fasqueda de nuevos genes implicados en la diabetes monog\u00e9nica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 B\u00fasqueda de nuevos genes implicados en la diabetes monog\u00e9nica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Intza Garin Elcoro <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/01\/2011<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Luis Antonio Casta\u00f1o Gonz\u00e1lez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: feliciano Jes\u00fas Ramos fuentes <\/li>\n<li>Fernando Jos\u00e9 Unda rodriguez (vocal)<\/li>\n<li>enrique Bl\u00e1zquez fern\u00e1ndez (vocal)<\/li>\n<li>Juan  Jos\u00e9 Teller\u00eda orriols (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Intza Garin Elcoro Entre el 25-45% de las familias o pacientes con diabetes monog\u00e9nica no presentan alteraci\u00f3n [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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